MCID: MYT023
MIFTS: 49

Myotonia Congenita

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myotonia Congenita

MalaCards integrated aliases for Myotonia Congenita:

Name: Myotonia Congenita 12 25 54 26 55 60 38 30 56 6 45 15 74
Congenital Myotonia, Autosomal Dominant Form 12 30 6
Thomsen and Becker Disease 54 60
Generalized Myotonia of Thomsen 74
Congenital Myotonia 26
Thomsen's Disease 12
Thomsen Disease 12

Characteristics:

Orphanet epidemiological data:

60
thomsen and becker disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

GeneReviews:

25
Penetrance The majority of the autosomal dominant pathogenic variants can be associated with reduced penetrance. family members heterozygous for the same pathogenic variant may exhibit variable phenotypes ranging from absence of myotonia to severe myotonia...

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:2106
KEGG 38 H00705
ICD9CM 36 359.22
MeSH 45 D009224
NCIt 51 C84912
ICD10 via Orphanet 35 G71.1
UMLS via Orphanet 75 C0027127 C2936781
Orphanet 60 ORPHA614
SNOMED-CT via HPO 70 274523007 3434004

Summaries for Myotonia Congenita

NIH Rare Diseases : 54 Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia congenita: Becker disease, which is the most common and severe, generalized form; and Thomsen disease, which is a rare and milder form. Both forms are caused by mutations in the CLCN1 gene. The Becker type is inherited in an autosomal recessive manner, and the Thomsen type is inherited in an autosomal dominant manner. Treatment may include medication for muscle stiffness,  such as mexiletine, carbamazepine, or phenytoin. Exercise may temporarily alleviate myotonia. People with myotonia congenita may be at increased risk for harmful side effects of anesthesia. Therefore, it is recommended that relatives of a person with the disease are tested during childhood.

MalaCards based summary : Myotonia Congenita, also known as congenital myotonia, autosomal dominant form, is related to myotonia and myotonic dystrophy, and has symptoms including muscular stiffness and lid lag. An important gene associated with Myotonia Congenita is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Hepatic ABC Transporters and Phase 0 - rapid depolarisation. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and tongue, and related phenotypes are emg abnormality and myotonia

Disease Ontology : 12 A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.

Genetics Home Reference : 26 Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. Myotonia causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. These muscle problems are particularly noticeable during movement following a period of rest. Many affected individuals find that repeated movements can temporarily alleviate their muscle stiffness, a phenomenon known as the warm-up effect.

NINDS : 55 Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present from early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles. 

Wikipedia : 77 Myotonia congenita, is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles... more...

GeneReviews: NBK1355

Related Diseases for Myotonia Congenita

Diseases in the Myotonia Congenita family:

Myotonia Congenita, Autosomal Dominant Myotonia Congenita, Autosomal Recessive

Diseases related to Myotonia Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 myotonia 32.6 CLCN1 CNBP SCN4A
2 myotonic dystrophy 31.1 CLCN1 CNBP
3 malignant hyperthermia 30.4 CACNA1S SCN4A
4 periodic paralyses 30.1 CACNA1S SCN4A
5 myotonic disease 29.8 CLCN1 CNBP SCN4A
6 hyperkalemic periodic paralysis 29.8 CACNA1S CLCN1 SCN4A
7 myotonia congenita, autosomal recessive 12.8
8 myotonia congenita, autosomal dominant 12.6
9 paramyotonia congenita of von eulenburg 12.1
10 myotonia, potassium-aggravated 12.0
11 becker's myotonia 11.6
12 thomsen's myotonia 11.6
13 myopathy, congenital 11.2
14 myotonia atrophica 10.4
15 muscle hypertrophy 10.3
16 muscular dystrophy 10.2
17 polyglucosan body myopathy 1 with or without immunodeficiency 10.2
18 hypothyroidism 10.2
19 muscular dystrophy, duchenne type 10.0
20 charcot-marie-tooth disease, demyelinating, type 1a 10.0
21 multiple sclerosis 10.0
22 myositis 10.0
23 strabismus 10.0
24 wolff-parkinson-white syndrome 10.0
25 myxedema 10.0
26 rippling muscle disease 2 10.0
27 myopathy due to myoadenylate deaminase deficiency 10.0
28 charcot-marie-tooth disease 10.0
29 scoliosis 10.0
30 ptosis 10.0
31 tooth disease 10.0
32 hypoparathyroidism 10.0
33 fibromyalgia 10.0
34 mechanical strabismus 10.0
35 adenosine monophosphate deaminase 1 deficiency 10.0
36 pseudomyotonia 10.0
37 depression 10.0
38 isolated hyperckemia 10.0
39 sleep apnea 10.0
40 neurotic disorder 10.0
41 myotonic dystrophy 1 10.0 CLCN1 CNBP
42 malignant hyperthermia susceptibility 10.0 CACNA1S SCN4A
43 metal metabolism disorder 9.9 CACNA1S SCN4A
44 myotonic dystrophy 2 9.9 CLCN1 CNBP SCN4A
45 myasthenia gravis 9.9
46 apraxia of eyelid opening 9.9
47 apraxia 9.9
48 myasthenia gravis congenital 9.9
49 andersen cardiodysrhythmic periodic paralysis 9.9 CACNA1S SCN4A
50 familial periodic paralysis 9.8 CACNA1S CLCN1 SCN4A

Graphical network of the top 20 diseases related to Myotonia Congenita:



Diseases related to Myotonia Congenita

Symptoms & Phenotypes for Myotonia Congenita

Human phenotypes related to Myotonia Congenita:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
2 myotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002486

UMLS symptoms related to Myotonia Congenita:


muscular stiffness, lid lag

MGI Mouse Phenotypes related to Myotonia Congenita:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 CACNA1S CLCN1 MSTN PRRT2 SCN4A
2 muscle MP:0005369 9.26 CACNA1S CLCN1 MSTN SCN4A
3 skeleton MP:0005390 9.02 CACNA1S CLCN1 CNBP MSTN PRRT2

Drugs & Therapeutics for Myotonia Congenita

Drugs for Myotonia Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 3,Phase 2 31828-71-4 4178
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
4 Sodium Channel Blockers Phase 3,Phase 2,Phase 1
5 Anti-Arrhythmia Agents Phase 3,Phase 2
6 Diuretics, Potassium Sparing Phase 3,Phase 2,Phase 1
7 Antipsychotic Agents Phase 3
8 Central Nervous System Depressants Phase 3
9 Calcium, Dietary Phase 3
10 Psychotropic Drugs Phase 3
11 Hormones Phase 3
12 Tranquilizing Agents Phase 3
13 calcium channel blockers Phase 3
14 Anticonvulsants Phase 3
15
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
16
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mexiletine and Non Dystrophic Myotonias Completed NCT02336477 Phase 3 Mexiletine;placebo
2 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
3 Combined N-of-1 Trials Mexiletine vs Placebo in Patients With Non-Dystrophic Myotonia (NDM) Completed NCT02045667 Phase 2 Mexiletine;Placebo
4 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
5 Relations Between Myotonia and Fitness Completed NCT02161835 Not Applicable
6 Characteristics of Nondystrophic Myotonias Completed NCT00244413

Search NIH Clinical Center for Myotonia Congenita

Cochrane evidence based reviews: myotonia congenita

Genetic Tests for Myotonia Congenita

Genetic tests related to Myotonia Congenita:

# Genetic test Affiliating Genes
1 Myotonia Congenita 30
2 Congenital Myotonia, Autosomal Dominant Form 30 CLCN1

Anatomical Context for Myotonia Congenita

MalaCards organs/tissues related to Myotonia Congenita:

42
Skeletal Muscle, Testes, Tongue, Bone

Publications for Myotonia Congenita

Articles related to Myotonia Congenita:

(show top 50) (show all 231)
# Title Authors Year
1
Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study. ( 30284249 )
2019
2
Treatment of myotonia congenita with retigabine in mice. ( 30738808 )
2019
3
Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia. ( 29381887 )
2018
4
CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia. ( 29424939 )
2018
5
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis. ( 29451154 )
2018
6
Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease). ( 29695755 )
2018
7
A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link? ( 29851785 )
2018
8
Myotonia congenita in a Labrador Retriever with truncated CLCN1. ( 29934119 )
2018
9
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. ( 29935101 )
2018
10
A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient. ( 30243293 )
2018
11
[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita]. ( 29896741 )
2018
12
Aerobic training in myotonia congenita: Effect on myotonia and fitness. ( 28039888 )
2017
13
Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita. ( 28153715 )
2017
14
Targeted Next Generation Sequencing in patients with Myotonia Congenita. ( 28427807 )
2017
15
Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features. ( 28706458 )
2017
16
Open-label trial of ranolazine for the treatment of myotonia congenita. ( 28710329 )
2017
17
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease). ( 29405036 )
2017
18
Anaesthesia and orphan disease: rocuronium and sugammadex in the anaesthetic management of a parturient with Becker's myotonia congenita. ( 26950083 )
2016
19
Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies. ( 27324117 )
2016
20
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A. ( 27486940 )
2016
21
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions. ( 27614575 )
2016
22
Bodybuilding championships and myotonia congenita. ( 27648183 )
2016
23
The Overlap between Fibromyalgia Syndrome and Myotonia Congenita. ( 25749817 )
2015
24
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita. ( 25065301 )
2015
25
Sodium channel slow inactivation as a therapeutic target for myotonia congenita. ( 25515836 )
2015
26
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. ( 26007199 )
2015
27
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. ( 26096614 )
2015
28
Myotonia congenita: novel mutations in CLCN1 gene. ( 26260254 )
2015
29
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. ( 24515601 )
2014
30
Asymptomatic myotonia congenita unmasked by severe hypothyroidism. ( 24530047 )
2014
31
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. ( 23893571 )
2014
32
Chloride channels in myotonia congenita assessed by velocity recovery cycles. ( 24037712 )
2014
33
Botulinum toxin in myotonia congenita: it does not help against rigidity and pain. ( 24357052 )
2014
34
Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita. ( 24625573 )
2014
35
Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics. ( 25083883 )
2014
36
Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations. ( 25205014 )
2014
37
A novel mutation in CLCN1 associated with feline myotonia congenita. ( 25356766 )
2014
38
In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita. ( 23639175 )
2013
39
Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita. ( 22921319 )
2013
40
Myotonia congenita in a patient who presented with diplopia and ptosis. ( 23349086 )
2013
41
Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. ( 23424641 )
2013
42
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. ( 23483815 )
2013
43
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. ( 23739125 )
2013
44
Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses. ( 23802937 )
2013
45
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. ( 23933576 )
2013
46
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. ( 24349310 )
2013
47
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. ( 22521272 )
2012
48
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. ( 22641783 )
2012
49
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. ( 22649220 )
2012
50
Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene. ( 22653516 )
2012

Variations for Myotonia Congenita

ClinVar genetic disease variations for Myotonia Congenita:

6 (show top 50) (show all 341)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN1 NM_000083.2(CLCN1): c.1238T> G (p.Phe413Cys) single nucleotide variant Pathogenic rs121912799 GRCh37 Chromosome 7, 143029583: 143029583
2 CLCN1 NM_000083.2(CLCN1): c.1238T> G (p.Phe413Cys) single nucleotide variant Pathogenic rs121912799 GRCh38 Chromosome 7, 143332490: 143332490
3 CLCN1 NM_000083.2(CLCN1): c.689G> A (p.Gly230Glu) single nucleotide variant Pathogenic rs80356700 GRCh37 Chromosome 7, 143018934: 143018934
4 CLCN1 NM_000083.2(CLCN1): c.689G> A (p.Gly230Glu) single nucleotide variant Pathogenic rs80356700 GRCh38 Chromosome 7, 143321841: 143321841
5 CLCN1 NM_000083.2(CLCN1): c.2795C> T (p.Pro932Leu) single nucleotide variant Uncertain significance rs80356706 GRCh37 Chromosome 7, 143048886: 143048886
6 CLCN1 NM_000083.2(CLCN1): c.2795C> T (p.Pro932Leu) single nucleotide variant Uncertain significance rs80356706 GRCh38 Chromosome 7, 143351793: 143351793
7 CLCN1 NM_000083.2(CLCN1): c.1488G> T (p.Arg496Ser) single nucleotide variant Pathogenic rs121912801 GRCh37 Chromosome 7, 143036620: 143036620
8 CLCN1 NM_000083.2(CLCN1): c.1488G> T (p.Arg496Ser) single nucleotide variant Pathogenic rs121912801 GRCh38 Chromosome 7, 143339527: 143339527
9 CLCN1 NM_000083.2(CLCN1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs80356694 GRCh37 Chromosome 7, 143036383: 143036383
10 CLCN1 NM_000083.2(CLCN1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs80356694 GRCh38 Chromosome 7, 143339290: 143339290
11 CLCN1 NM_000083.2(CLCN1): c.1655A> G (p.Gln552Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80356696 GRCh37 Chromosome 7, 143039094: 143039094
12 CLCN1 NM_000083.2(CLCN1): c.1655A> G (p.Gln552Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80356696 GRCh38 Chromosome 7, 143342001: 143342001
13 CLCN1 NM_000083.2(CLCN1): c.870C> G (p.Ile290Met) single nucleotide variant Pathogenic rs80356690 GRCh37 Chromosome 7, 143027881: 143027881
14 CLCN1 NM_000083.2(CLCN1): c.870C> G (p.Ile290Met) single nucleotide variant Pathogenic rs80356690 GRCh38 Chromosome 7, 143330788: 143330788
15 CLCN1 NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356702 GRCh37 Chromosome 7, 143027961: 143027961
16 CLCN1 NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356702 GRCh38 Chromosome 7, 143330868: 143330868
17 CLCN1 NM_000083.2(CLCN1): c.2680C> T (p.Arg894Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs55960271 GRCh37 Chromosome 7, 143048771: 143048771
18 CLCN1 NM_000083.2(CLCN1): c.2680C> T (p.Arg894Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs55960271 GRCh38 Chromosome 7, 143351678: 143351678
19 CLCN1 NM_000083.2(CLCN1): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic rs80356699 GRCh37 Chromosome 7, 143017837: 143017837
20 CLCN1 NM_000083.2(CLCN1): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic rs80356699 GRCh38 Chromosome 7, 143320744: 143320744
21 CLCN1 NM_000083.2(CLCN1): c.566C> T (p.Ser189Phe) single nucleotide variant Pathogenic rs121912810 GRCh37 Chromosome 7, 143018811: 143018811
22 CLCN1 NM_000083.2(CLCN1): c.566C> T (p.Ser189Phe) single nucleotide variant Pathogenic rs121912810 GRCh38 Chromosome 7, 143321718: 143321718
23 CLCN1 CLCN1, TRP433ARG undetermined variant Pathogenic
24 CLCN1 NM_000083.2(CLCN1): c.577G> A (p.Glu193Lys) single nucleotide variant Pathogenic rs80356686 GRCh38 Chromosome 7, 143321729: 143321729
25 CLCN1 NM_000083.2(CLCN1): c.1013G> A (p.Arg338Gln) single nucleotide variant Likely pathogenic rs80356703 GRCh37 Chromosome 7, 143028358: 143028358
26 CLCN1 NM_000083.2(CLCN1): c.1013G> A (p.Arg338Gln) single nucleotide variant Likely pathogenic rs80356703 GRCh38 Chromosome 7, 143331265: 143331265
27 CLCN1 NM_000083.2(CLCN1): c.1412C> T (p.Ser471Phe) single nucleotide variant Pathogenic rs80356693 GRCh37 Chromosome 7, 143036356: 143036356
28 CLCN1 NM_000083.2(CLCN1): c.1412C> T (p.Ser471Phe) single nucleotide variant Pathogenic rs80356693 GRCh38 Chromosome 7, 143339263: 143339263
29 CLCN1 NM_000083.2(CLCN1): c.1438C> A (p.Pro480Thr) single nucleotide variant Pathogenic rs80356695 GRCh37 Chromosome 7, 143036382: 143036382
30 CLCN1 NM_000083.2(CLCN1): c.1438C> A (p.Pro480Thr) single nucleotide variant Pathogenic rs80356695 GRCh38 Chromosome 7, 143339289: 143339289
31 CLCN1 NM_000083.2(CLCN1): c.1592C> T (p.Ala531Val) single nucleotide variant Pathogenic rs80356704 GRCh37 Chromosome 7, 143039031: 143039031
32 CLCN1 NM_000083.2(CLCN1): c.1592C> T (p.Ala531Val) single nucleotide variant Pathogenic rs80356704 GRCh38 Chromosome 7, 143341938: 143341938
33 CLCN1 NM_000083.2(CLCN1): c.1667T> A (p.Ile556Asn) single nucleotide variant Pathogenic rs80356697 GRCh37 Chromosome 7, 143039106: 143039106
34 CLCN1 NM_000083.2(CLCN1): c.1667T> A (p.Ile556Asn) single nucleotide variant Pathogenic rs80356697 GRCh38 Chromosome 7, 143342013: 143342013
35 CLCN1 NM_000083.2(CLCN1): c.2330delG (p.Gly777Alafs) deletion Pathogenic rs80356707 GRCh37 Chromosome 7, 143043717: 143043717
36 CLCN1 NM_000083.2(CLCN1): c.2330delG (p.Gly777Alafs) deletion Pathogenic rs80356707 GRCh38 Chromosome 7, 143346624: 143346624
37 CLCN1 NM_000083.2(CLCN1): c.2512_2513insCTCA (p.His838Profs) insertion Pathogenic rs80356698 GRCh37 Chromosome 7, 143047664: 143047665
38 CLCN1 NM_000083.2(CLCN1): c.2512_2513insCTCA (p.His838Profs) insertion Pathogenic rs80356698 GRCh38 Chromosome 7, 143350571: 143350572
39 CLCN1 NM_000083.2(CLCN1): c.394A> T (p.Ser132Cys) single nucleotide variant Pathogenic rs80356684 GRCh37 Chromosome 7, 143017849: 143017849
40 CLCN1 NM_000083.2(CLCN1): c.394A> T (p.Ser132Cys) single nucleotide variant Pathogenic rs80356684 GRCh38 Chromosome 7, 143320756: 143320756
41 CLCN1 NM_000083.2(CLCN1): c.577G> A (p.Glu193Lys) single nucleotide variant Pathogenic rs80356686 GRCh37 Chromosome 7, 143018822: 143018822
42 CLCN1 NM_000083.2(CLCN1): c.592C> G (p.Leu198Val) single nucleotide variant Conflicting interpretations of pathogenicity rs80356685 GRCh37 Chromosome 7, 143018837: 143018837
43 CLCN1 NM_000083.2(CLCN1): c.592C> G (p.Leu198Val) single nucleotide variant Conflicting interpretations of pathogenicity rs80356685 GRCh38 Chromosome 7, 143321744: 143321744
44 CLCN1 NM_000083.2(CLCN1): c.803C> T (p.Thr268Met) single nucleotide variant Pathogenic/Likely pathogenic rs80356687 GRCh37 Chromosome 7, 143021535: 143021535
45 CLCN1 NM_000083.2(CLCN1): c.803C> T (p.Thr268Met) single nucleotide variant Pathogenic/Likely pathogenic rs80356687 GRCh38 Chromosome 7, 143324442: 143324442
46 CLCN1 NM_000083.2(CLCN1): c.847C> T (p.Leu283Phe) single nucleotide variant Pathogenic rs80356688 GRCh37 Chromosome 7, 143021579: 143021579
47 CLCN1 NM_000083.2(CLCN1): c.847C> T (p.Leu283Phe) single nucleotide variant Pathogenic rs80356688 GRCh38 Chromosome 7, 143324486: 143324486
48 CLCN1 NM_000083.2(CLCN1): c.857T> C (p.Val286Ala) single nucleotide variant Pathogenic rs80356689 GRCh37 Chromosome 7, 143027868: 143027868
49 CLCN1 NM_000083.2(CLCN1): c.857T> C (p.Val286Ala) single nucleotide variant Pathogenic rs80356689 GRCh38 Chromosome 7, 143330775: 143330775
50 CLCN1 NM_000083.2(CLCN1): c.920T> C (p.Phe307Ser) single nucleotide variant Pathogenic rs80356701 GRCh37 Chromosome 7, 143027931: 143027931

Expression for Myotonia Congenita

Search GEO for disease gene expression data for Myotonia Congenita.

Pathways for Myotonia Congenita

Pathways related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.05 CACNA1S CLCN1
2
Show member pathways
10.5 CACNA1S SCN4A

GO Terms for Myotonia Congenita

Cellular components related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.32 CLCN1

Biological processes related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.43 CACNA1S CLCN1 SCN4A
2 transmembrane transport GO:0055085 9.33 CACNA1S CLCN1 SCN4A
3 regulation of ion transmembrane transport GO:0034765 9.13 CACNA1S CLCN1 SCN4A
4 muscle contraction GO:0006936 8.8 CACNA1S CLCN1 SCN4A

Molecular functions related to Myotonia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.62 CACNA1S SCN4A

Sources for Myotonia Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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